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Glypican 1 gene: good candidate for brachydactyly type E.
Syrrou M, Keymolen K, Devriendt K, Holvoet M, Thoelen R, Verhofstadt K, Fryns JP. Syrrou M, et al. Among authors: devriendt k. Am J Med Genet. 2002 Apr 1;108(4):310-4. doi: 10.1002/ajmg.10266. Am J Med Genet. 2002. PMID: 11920836
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.
Frints SG, Jun L, Fryns JP, Devriendt K, Teulingkx R, Van den Berghe L, De Vos B, Borghgraef M, Chelly J, Des Portes V, Van Bokhoven H, Hamel B, Ropers HH, Kalscheuer V, Raynaud M, Moraine C, Marynen P, Froyen G. Frints SG, et al. Among authors: devriendt k. Am J Med Genet A. 2003 Jun 15;119A(3):367-74. doi: 10.1002/ajmg.a.20195. Am J Med Genet A. 2003. PMID: 12784308
Human laterality disorders.
Peeters H, Devriendt K. Peeters H, et al. Among authors: devriendt k. Eur J Med Genet. 2006 Sep-Oct;49(5):349-62. doi: 10.1016/j.ejmg.2005.12.003. Epub 2006 Jan 3. Eur J Med Genet. 2006. PMID: 16461029 Review.
Left-ventricular non-compaction in a patient with monosomy 1p36.
Thienpont B, Mertens L, Buyse G, Vermeesch JR, Devriendt K. Thienpont B, et al. Among authors: devriendt k. Eur J Med Genet. 2007 May-Jun;50(3):233-6. doi: 10.1016/j.ejmg.2007.01.002. Epub 2007 Jan 27. Eur J Med Genet. 2007. PMID: 17337261
Partial duplications of the ATRX gene cause the ATR-X syndrome.
Thienpont B, de Ravel T, Van Esch H, Van Schoubroeck D, Moerman P, Vermeesch JR, Fryns JP, Froyen G, Lacoste C, Badens C, Devriendt K. Thienpont B, et al. Among authors: devriendt k. Eur J Hum Genet. 2007 Oct;15(10):1094-7. doi: 10.1038/sj.ejhg.5201878. Epub 2007 Jun 20. Eur J Hum Genet. 2007. PMID: 17579672
602 results